Results 21 to 30 of about 200,238 (297)
, 2021 We characterize the landscape of somatic mutations-mutations occurring after fertilization-in the human brain using ultra-deep (~250×) whole-genome sequencing of prefrontal cortex from 59 donors with autism spectrum disorder (ASD) and 15 control donors ...
Walsh, Christopher A. +2 more
core +1 more source
Timing the initiation of multiple myeloma
Nature Communications, 2020 The initial mutational processes and how these lead to progression in multiple myeloma (MM) are unclear. Here, the authors identify mutational signatures that occur over time in a large cohort of MM patients and suggest features that may help in early ...
Even H. Rustad +25 more
doaj +1 more source
Generating realistic null hypothesis of cancer mutational landscapes using SigProfilerSimulator
BMC Bioinformatics, 2020 Background Performing a statistical test requires a null hypothesis. In cancer genomics, a key challenge is the fast generation of accurate somatic mutational landscapes that can be used as a realistic null hypothesis for making biological discoveries ...
Erik N. Bergstrom +3 more
doaj +1 more source
Identification of Somatic Mutation-Driven Immune Cells by Integrating Genomic and Transcriptome Data
Frontiers in Cell and Developmental Biology, 2021 Tumor somatic mutations in protein-coding regions may generate neoantigens which may trigger antitumor immune cell response. Increasing evidence supports that immune cell response may profoundly influence tumor progression.
Ying Jiang +4 more
doaj +1 more source
Unified classification and risk-stratification in Acute Myeloid Leukemia
Nature Communications, 2022 Classification and risk-stratification for Acute Myeloid Leukemia (AML) at diagnosis are primarily based on cytogenetics and only a few gene mutations. Here, the authors study the genomic landscape of 3653 AML patients and characterize 16 non-overlapping
Yanis Tazi +26 more
doaj +1 more source
Clinicoprognostical features of endometrial cancer patients with somatic mtDNA mutations [PDF]
, 2006 Somatic mitochondrial DNA (mtDNA) mutations have been found in a subset of endometrial cancers (EC) from different populations. We have investigated the relationship between mtDNA changes and clinical and pathological variables of women affected by ...
Bartnik, Ewa +13 more
core +1 more source
Factors influencing cancer genetic somatic mutation test ordering by cancer physician
Journal of Translational Medicine, 2020 Background Clinical whole exome sequencing was introduced in an Australian centre in 2017, as an alternative to Sanger sequencing. We aimed to identify predictors of cancer physicians’ somatic mutation test ordering behaviour.
Anastassia Demeshko +5 more
doaj +1 more source
Life, 2022 We present here COOBoostR, a computational method designed for the putative prediction of the tissue- or cell-of-origin of various cancer types. COOBoostR leverages regional somatic mutation density information and chromatin mark features to be applied ...
Sungmin Yang +9 more
doaj +1 more source
Inactivation and inducible oncogenic mutation of p53 in gene targeted pigs. [PDF]
, 2012 Mutation of the tumor suppressor p53 plays a major role in human carcinogenesis. Here we describe gene-targeted porcine mesenchymal stem cells (MSCs) and live pigs carrying a latent TP53(R167H) mutant allele, orthologous to oncogenic human mutant TP53 ...
Eckhard Wolf +41 more
core +1 more source
Can somatic GATA2 mutation mimic germ line GATA2 mutation? [PDF]
Blood Advances, 2018 Key Points Somatic GATA2 mutation is associated with immunodeficiency and pulmonary alveolar proteinosis in a patient with myeloproliferative neoplasm.
Mallika Sekhar +7 more
doaj +3 more sources